Mutations in CDCA7 and HELLS cause

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara

M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P,

Kloeckener-Gruissem B, Gungor T, Reisli I, Picard C, Kebaili K, Roquelaure B,

Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C,

Francastel C, van der Maarel SM, Sasaki H. Mutations in CDCA7 and HELLS cause

immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun. 2015 Jul 28;6:7870.

PubMed ID: 
26216346